Macrodystrophia lipomatosa

Clinical Cases 29.10.2002
Scan Image
Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 5 years, male
Authors: N Ramesh,M O Dowd,E Colhoun
icon
Details
icon
AI Report

Clinical History

Progressive enlargement of the first and second digits.

Imaging Findings

The patient presented with progressive enlargement of the first and second digits of the left hand.

Plain radiographs of both hands were performed. These showed soft tissue hypertrophy with enlargement of the metacarpals and phalanges of the first and second digits. No other abnormality were seen. The findings were in keeping with changes of macrodystrophia lipomatosa.

Discussion

Macrodystrophia lipomatosa is a rare congenital form of localised gigantism characterised by a disproportionate increase in all the mesenchymal elements, especially fibroadipose tissue. It is associated with slowly progressive unilateral hypertrophy of the phalanges and affected limb. The cause of this condition is obscure.

Clinically, the macrodactyly is seen at birth and is progressive. The abnormality is always unilateral, and usually in the distribution of the median nerve or the plantar nerve. The second and third digit of the hand are commonly involved, with the foot less frequently affected. Secondary degenerative arthropathy is seen in young adults with limitation of joint movement.

Radiographically, plain films demonstrate the bony changes. Soft tissue lucency due to fat deposition may or may not be seen because sometimes soft tissue hypertrophy is due to the deposition of mixed fibro-fatty tissue. There is enlargement of the bones, with marginal erosions, joint destruction and irregular periosteal reaction. Ankylosis can occur with bands of dense bone. CT and MR delineate the tissues involved and are virtually diagnostic, demonstrating predominantly the adipose component as well as the overgrowth of the bones of the affected regions. There is absence of angioma or arterio-venous fistula. MR may also demonstrate fibrolipomatous hamartoma of the nerve of the affected region in some cases.

Differential Diagnosis List

Macrodystrophia lipomatosa

Final Diagnosis

Macrodystrophia lipomatosa

Liscense

Figures

Plain radiographs (AP view) of both hands

icon
Plain radiographs (AP view) of both hands